Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(199): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTCCTTCCTTCCTTCCTTTCT TCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	4	0.2500	206	c.252 others(227): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGGAA GGAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA GGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(199): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCTTTCT TCCTCCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0027 a0001c0001t0013g0027	1	4	0.2500	206	c.252 others(227): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGGAA GAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA GGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(199): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATTGTATATATAATAT ATATTATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATATATTATATATA TAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00639.hp1 others(19): Show HG00099.hp1 HG00408.hp1 HG00639.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG04184.hp2 NA18946.hp2 NA18956.hp1 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0002g0011 others(13): Show a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0005g0038 a0001c0001t0008g0160	22	55	0.4000	206	c.-12 others(217): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATATAATTGTATATATAA TATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFIP1_chr4_152774954_152917357	152804183	A A	ATTATATA others(199): Show ATTATATATAATATAAGATGTATTATATATTATATATAATATAAGATGTA TTATATATTATATATAATATAAGATGTATTATATATTATATATAATATAA TATGTATTATATATAATATATAATATAACATGTATTACATATTATATATA TAACATAACATGTATTATATATATTTTATATATAATATAACATGTATTAT ATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 NA18949.hp2 HG01123.hp2 HG01515.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0265 a0001c0001t0003g0278 a0001c0001t0003g0177 a0001c0001t0003g0265 a0001c0001t0003g0278	3	338	0.0089	206	c.-10 others(225): Show c.-10+23972_-10+23973insGATGTATTATATATTATATATAATAT AAGATGTATTATATATTATATATAATATAAGATGTATTATATATTATATA TAATATAATATGTATTATATATAATATATAATATAACATGTATTACATAT TATATATATAACATAACATGTATTATATATATTTTATATATAATATAACA TGTATTATATATATTTTATATATAATATAA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP18_chr6_129571132_129715177	129625509	A A	ATTATATA others(199): Show ATTATATATTATATATAATATATATTTTATATTATATATTATATATAATA TATATTTTATATTATATATTATATATAATATATATTTTATATTATATATT ATATATAATATATATTTTATATTATATATTATATATAATATATATTTTAT ATTATATATTATATATAATATATATTTTATATTATATATTATATATAATA TATATTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0077 a0001c0001t0007g0078	2	236	0.0085	206	c.786 others(223): Show c.786+3843_786+3844insAAATATATATTATATATAATATATAATA TAAAATATATATTATATATAATATATAATATAAAATATATATTATATATA ATATATAATATAAAATATATATTATATATAATATATAATATAAAATATAT ATTATATATAATATATAATATAAAATATATATTATATATAATATATAATA TAAAATATATATTATATATAATATATAA	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(199): Show CAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGT AGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGA TAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATG GGTAGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 NA18612.hp1 others(4): Show HG01069.hp2 HG01071.hp2 NA18612.hp1 NA18963.hp1 NA18995.hp1 NA19065.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(2): Show a0001c0002 a0001c0005 a0001c0006 a0001c0019 a0002c0028	a0001c0002t0001 a0001c0005t0001 a0001c0006t0039 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0006t0039 a0001c0019t0001 a0002c0028t0001	a0001c0002t0001g0056 a0001c0002t0001g0252 a0001c0005t0001g0080 others(4): Show a0001c0002t0001g0056 a0001c0002t0001g0252 a0001c0005t0001g0080 a0001c0006t0039g0160 a0001c0019t0001g0194 a0001c0019t0001g0195 a0002c0028t0001g0201	7	242	0.0289	206	c.352 others(225): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGTGCACTCTCACT GTTCCTCTGGAGGATAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTC ACTGTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCT CACTGTTTTTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCT others(199): Show CAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTA GCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGAT AGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGA TAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATG GGTAGCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03927.hp1 HG03239.hp2 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0319 a0001c0003t0001g0062 a0001c0003t0001g0319	2	237	0.0084	206	c.352 others(225): Show c.3521-1608_3521-1607insTCTCTGGATGGGTAGCCAGGTGCTTC CTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCAT CCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCT CCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATGGGTAGCTAGGTG CTCCCTGAAAGGAGGTGCACTCTCACTGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41896787	T T	TCCCCTCC others(199): Show TCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCCTCCTCTC TCACCTCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCC TCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACC TCCCCCATCCTCTCTCACCTCCCCCCTCCTCTCTCACCTACCCCCTCCTC TCACCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20129.hp1 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0027 a0001c0003t0001g0029	2	216	0.0093	206	c.112 others(223): Show c.1121+309_1121+310insTCCTCTCTCACCTCCCCTCTCCTCTCTC ACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCTCTC CTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTC CCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCACCTCCCCCCTCCTCTC TCACCTACCCCCTCCTCTCACCTCCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(199): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC TCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01109.hp1 others(4): Show HG00140.hp1 HG00280.hp1 HG01109.hp1 HG01515.hp2 HG03710.hp2 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0233 a0001c0001t0001g0237	7	198	0.0354	206	c.102 others(223): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCC CCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(199): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC TCCCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp2 HG04228.hp1 others(2): Show HG00621.hp2 HG01934.hp2 HG04228.hp1 NA18970.hp2 NA18995.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0229 a0005c0010t0001g0054	5	196	0.0255	206	c.102 others(223): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCC CCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGCAG others(199): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACAC ATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	296	0.0034	206	c.51 others(217): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCC TCCATGTGTTCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049930	G G	GGGGGCAG others(199): Show GGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGA GGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	302	0.0033	206	c.48 others(217): Show c.4800_*4801insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCCATGTGTTCCCCTCTGCC CCCATGTGTTCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2173		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050070	C C	CACATGGG others(199): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	294	0.0034	206	c.46 others(217): Show c.4660_*4661insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCAT GTATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2033		chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25731214	A A	AGAAAGAA others(199): Show AGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAA GCGGGAGGAAGAAAAAGAAAGAAAGAGAGAAAGAGAAAGAAGAAAGAAGG AAAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAG AAAGAAAGAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAG AGAAAGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0010 a0001c0003t0008g0010	1	115	0.0087	206	c.238 others(227): Show c.2384+31948_2384+31949insAAGAGAAAGAAGAAAGAAGGAAAG AGAGAGAGAGGAAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAG AAAGAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAA AGGGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGG AAGCGGGAGGAAGAAAAAGAAAGAAAGAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(199): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTG GCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	296	0.0034	206	c.36 others(217): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(199): Show GAGGGAGGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	144	0.0069	206	c.784 others(221): Show c.784-514_784-513insGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(199): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGA GGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGA CTGGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02257.hp2 others(20): Show HG01261.hp2 HG01891.hp1 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp1 NA18944.hp2 NA18946.hp2 NA18970.hp2 NA19068.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 others(20): Show a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186	23	24	0.9583	206	c.51+ others(219): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(199): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGTG GGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGA GGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGA CTGGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	2	0.5000	206	c.51+ others(219): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCACTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTC CCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BICD1_chr12_32101847_32388633	32252135	T T	TTATATAT others(199): Show TTATATATTATATATTTATAATAAATATTATATATTATATATTTATAATA AATATTATATATTATATATTTATAATAAATATTATATATTATATATTATA TTTATAATAAATATTATATATTATATATTATATTTATAATAAATATAATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	1	242	0.0041	206	c.426 others(225): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATAATAAATATTATATATTAT ATATTATATTTATAATAAATATTATATATTATATATTATATTTATAATAA ATATAATATATTATATATTATATTTATAATAAATATTATATATTATATAT TATATTTATAATAAATATATATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(199): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATACCCATGGGTATATATAT ATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp1 HG00738.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0117 a0001c0001t0006g0267 a0001c0001t0001g0117 a0001c0001t0006g0267	2	162	0.0123	206	c.-81 others(225): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(199): Show ATATATATATATATATATACCCATGGGTATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATATATACCCATGGGTATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATATAC CCATGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	2	337	0.0059	206	c.-81 others(225): Show c.-81-13416_-81-13415insCCCATGGGTATATATATATATATATA TACCCATGGGTATATATATATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATATACCCATGGGTATATATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(199): Show TATATATATAATATATATTATATATAATATATATTATATATTATATATAA TATATATTATATATAATATATATTATATAAAATATATAATATATAATATA TATTATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATAAAATATATATTATATATAATATATATTATATATAATATATATT ATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02809.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0001 a0001c0001t0005 a0007c0018t0003 a0001c0001t0001 a0001c0001t0005 a0007c0018t0003	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0005g0039 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0005g0039 a0001c0001t0005g0167 a0007c0018t0003g0037	5	70	0.0714	206	c.314 others(225): Show c.314-50897_314-50896insTATATATAATATATATTATATATAAT ATATATTATATATAATATATATTTTATATAATATATATTATATATATTAT ATATAATATATATTATATATAATATATAATATATATTATATATTATATAT TTTATATAATATATATTATATATAATATATATTATATATAATATATAATA TATATTATATATAATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(199): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGGAGTAGCTGGGACTA GAGGCACCTACCACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTT TTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGATGGAGTTTTGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAAACCTC TGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	257	0.0039	206	c.-33 others(217): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG GAGTAGCTGGGACTAGAGGCACCTACCACCACCATGCCTGGCTAATTTTT TGTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGA TGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGG CTCACTGCAAACCTCTGCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C17orf99_chr17_78141385_78171297	78167707	C C	CCGCGCCC others(199): Show CCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTCTCACTCTGTCGCG CAGGCTGGAGTACAGTGGTGCGATCTCTGCTCATTGCAACCTCCGCCTCC CAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GACATGCGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACCT CAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03225.hp1 HG03453.hp1 others(1): Show HG02145.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0129 a0001c0001t0009g0148 a0001c0001t0009g0150 others(1): Show a0001c0001t0001g0129 a0001c0001t0009g0148 a0001c0001t0009g0150 a0001c0001t0009g0399	4	429	0.0093	206	c.16 others(217): Show c.1661_*1662insCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAG TCTCACTCTGTCGCGCAGGCTGGAGTACAGTGGTGCGATCTCTGCTCATT GCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGACATGCGCCACCATGCCCTGCTAATTTTTTGTAT TTTTAGTAGAGACCTCAGGAGA	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		1411		chr17	TogoVar
C17orf99_chr17_78141385_78171297	78167707	C C	CCGCGCCC others(199): Show CCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTCTCACTCTGTCGCG CAGGGTGGAGTACAGTGGTGCGATCTGTGCTCATTGCAACCTCCGCCTCC CAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GACATGCGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACCT CAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG02055.hp2 others(12): Show HG01099.hp1 HG01255.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(12): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0121 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0401	15	440	0.0341	206	c.16 others(217): Show c.1661_*1662insCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAG TCTCACTCTGTCGCGCAGGGTGGAGTACAGTGGTGCGATCTGTGCTCATT GCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGACATGCGCCACCATGCCCTGCTAATTTTTTGTAT TTTTAGTAGAGACCTCAGGAGA	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		1411		chr17	TogoVar
C1orf74_chr1_209774208_209789559	209780328	T T	TGTTAGGG others(199): Show TGTTAGGGGGGAGGGGGGGATTGGTTGAGGGTGGGGGGGTGTGGTGGGGG TGGGGGTGGGGGGGTGGGGGGGGGGGTTGGGGTGGGGGGGGGGGGGTGGT GGGGTGGGGTGGGGGTGGTTGGTGGGGATGGGTATGGTGGGGTGGTGGGG ATGCGGGGGGGGTGGTGGGGGATTGGTGGGGTGTAGTGGGGGGGTTGGAG TTACTAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0022 a0001c0001t0019g0022	1	444	0.0023	206	c.24 others(217): Show c.2496_*2497insCTAGTAACTCCAACCCCCCCACTACACCCCACCA ATCCCCCACCACCCCCCCCGCATCCCCACCACCCCACCATACCCATCCCC ACCAACCACCCCCACCCCACCCCACCACCCCCCCCCCCCCACCCCAACCC CCCCCCCCACCCCCCCACCCCCACCCCCACCACACCCCCCCACCCTCAAC CAATCCCCCCCTCCCCCCTAAC	C1orf74	ENSG00000162757.4	transcript	ENST00000294811.2	protein_coding	2/2	2496		chr1	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(199): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCG GTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCAT GACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGT GCGGTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0046 a0001c0012t0007g0046	1	94	0.0106	206	c.478 others(225): Show c.478-41683_478-41682insTTCATCATGACCCAGTGGGAAGGAAC GTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCC ACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGG AACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTC TCCACCGACACCATGTGGGTACTGGGGAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407525	C C	CGTCCTTT others(199): Show CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTC CACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAG GAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGT CTCCACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGG AAGGAAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0056 a0001c0015t0034g0056	1	103	0.0097	206	c.478 others(225): Show c.478-41314_478-41313insAGTGGACATCGTCTCCACTGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAATGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407663	G G	GGTGGACA others(199): Show GGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 HG02886.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0004 a0001c0001t0005 a0001c0004t0004	a0001c0001t0005g0015 a0001c0004t0004g0086 a0001c0001t0005g0015 a0001c0004t0004g0086	2	68	0.0294	206	c.478 others(225): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407663	G G	GGTGGACA others(199): Show GGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp1 HG01106.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0091 a0001c0002t0001g0018 a0001c0002t0001g0091	2	68	0.0294	206	c.478 others(225): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(199): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0105 a0005c0009t0007g0105	1	194	0.0052	206	c.300 others(223): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(199): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0051 a0051	a0051c0061 a0051c0061	a0051c0061t0002 a0051c0061t0002	a0051c0061t0002g0330 a0051c0061t0002g0330	1	326	0.0031	206	c.300 others(223): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(199): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATACG CGTATATATATGTATATACATATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATGTATATACATATATATACGCGTATATATATG TATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	49	0.0204	206	c.125 others(225): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATACGCGTATATATATGTATATACATATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATATACAT ATATATACGCGTATATATGTATATACATATATATACGCGTATATATGTAT ATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(199): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0151 a0002c0002t0002g0151	1	11	0.0909	206	c.218 others(221): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(199): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTA TATATACACACATATATGTATGTGTATATATACACACACATATACACACA CGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	11	0.0909	206	c.218 others(221): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTATATATACACACATATATGTATGTGTATATAT ACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200816782	A A	ATGTGTGT others(199): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	338	0.0030	206	c.645 others(223): Show c.645+1139_645+1140insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(199): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACG CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACA CACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACA CACACGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	313	0.0032	206	c.645 others(223): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(199): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACAC GCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACAC ACGCGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19001.hp2 NA19030.hp1 others(2): Show HG00609.hp2 NA19001.hp2 NA19030.hp1 NA19076.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0279 a0001c0001t0001g0281 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0305 a0001c0001t0001g0306	5	271	0.0185	206	c.645 others(223): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATG TGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTA TGTGCGTACACACACACGCGTATATGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(199): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18942.hp1 HG01934.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0272 a0001c0001t0001g0197 a0001c0001t0001g0272	2	268	0.0075	206	c.645 others(223): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0287 a0002c0003t0001g0287	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0323 a0002c0004t0002g0323	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCCTCTCCTTCTCC TTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0326 a0002c0003t0001g0326	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCCTCTCC TTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18986.hp2 HG00597.hp2 NA18986.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0005 a0002c0004 a0003c0005	a0002c0004t0004 a0003c0005t0001 a0002c0004t0004 a0003c0005t0001	a0002c0004t0004g0325 a0003c0005t0001g0247 a0002c0004t0004g0325 a0003c0005t0001g0247	2	44	0.0455	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCCTCTCCTTCTCC TTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0288 a0002c0003t0001g0288	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0266 a0002c0004t0002g0266	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAG GAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0304 a0002c0003t0001g0304	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	43	0.0233	206	c.234 others(223): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(199): Show AAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGCGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAG GAGAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	282	0.0035	206	c.234 others(223): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTTCCCCTTCGCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(199): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAG GAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0164 a0001c0002t0003g0164	1	24	0.0417	206	c.234 others(223): Show c.234+6819_234+6820insTCTTCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(199): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	24	0.0417	206	c.234 others(223): Show c.234+6819_234+6820insTCTTCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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